A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15900035



Internal ID19971975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:19642306..19714456hg38UCSC Ensembl
chr5:19642415..19714565hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3872151
hg1972151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4131255
Supporting Variants
Samples
Known GenesCDH18
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15900035
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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